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Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group; Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A. Kumutpongpanich T, et al. Among authors: noguchi s. JAMA Neurol. 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. JAMA Neurol. 2021. PMID: 34047774 Free PMC article.
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I. Nishino I, et al. Among authors: noguchi s. Neurology. 2002 Dec 10;59(11):1689-93. doi: 10.1212/01.wnl.0000041631.28557.c6. Neurology. 2002. PMID: 12473753
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.
Driss A, Noguchi S, Amouri R, Kefi M, Sasaki T, Sugie K, Souilem S, Hayashi YK, Shimizu N, Minoshima S, Kudoh J, Hentati F, Nishino I. Driss A, et al. Among authors: noguchi s. Neurology. 2003 Apr 22;60(8):1341-4. doi: 10.1212/01.wnl.0000065886.82930.c5. Neurology. 2003. PMID: 12707439
Ullrich disease due to deficiency of collagen VI in the sarcolemma.
Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Noguchi S, Hayashi YK, Nonaka I, Nishino I. Ishikawa H, et al. Among authors: noguchi s. Neurology. 2004 Feb 24;62(4):620-3. doi: 10.1212/01.wnl.0000113023.84421.00. Neurology. 2004. PMID: 14981181
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
Ohashi Y, Hasegawa Y, Murayama K, Ogawa M, Hasegawa T, Kawai M, Sakata N, Yoshida K, Yarita H, Imai K, Kumagai I, Murakami K, Hasegawa H, Noguchi S, Nonaka I, Yamaguchi S, Nishino I. Ohashi Y, et al. Among authors: noguchi s. Neurology. 2004 Jun 22;62(12):2209-13. doi: 10.1212/01.wnl.0000130486.54839.15. Neurology. 2004. PMID: 15210884
1,908 results